Homocystinuria: Biosynthesis of Cystathionine and Homolanthionine

Homocystinuria due to cystathionine synthase deficiency.

Homocystinuria due to cystathionine beta synthase deficiency.

A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency. The drug decreased the plasma concentration and urinary excretion of methionine and homocystine and the urinary excretion of homolanthionine and the homocysteine-cysteine mixed disulfide. Urinary cystine rose somewhat. Oral methionine tolerance tests before and...

Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.

Homocystinuria is an inborn error of the metabolism of methionine, which is associated with a deficiency of cystathionine synthase activity in liver and brain. It is inherited as an autosomal recessive trait; characteristic clinical stigmata usually include mental retardation and ectopia lentis (Carson, Dent, Field, and Gaull, I965; Schimke, McKusick, Huang, and Pollack, I965; Mudd, Finkelstein...

Abnormally High Thromboxane Biosynthesis in Homozygous Homocystinuria

Introduction Homocystinuria due to homozygous cystathionine tl-synthase deficiency is an inborn error of metabolism characterized by a high incidence of thrombosis and premature atherosclerosis. We evaluated TXA2 biosynthesis in vivo and several in vitro tests of platelet function in 11 homocystinuric patients and 12 healthy controls. In vitro, patients' platelet aggregation was within control ...